Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11887534
rs11887534
29 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.800 1.000 17 2007 2018
dbSNP: rs4245791
rs4245791
8 0.882 0.080 2 43847292 non coding transcript exon variant C/A;T snv 0.710 1.000 2 2007 2016
dbSNP: rs41360247
rs41360247
3 0.882 0.080 2 43846517 non coding transcript exon variant T/C snv 7.9E-02 0.700 1.000 1 2007 2007
dbSNP: rs4299376
rs4299376
11 0.851 0.120 2 43845437 intron variant G/C;T snv 0.700 1.000 1 2007 2007
dbSNP: rs4953023
rs4953023
6 0.925 0.040 2 43846861 non coding transcript exon variant G/A snv 6.9E-02 0.700 1.000 1 2007 2007
dbSNP: rs4148211
rs4148211
3 0.882 0.080 2 43844604 missense variant A/G snv 0.43 0.35 0.030 1.000 3 2007 2014
dbSNP: rs4148217
rs4148217
11 0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05 0.020 1.000 2 2007 2014
dbSNP: rs1205128669
rs1205128669
2 0.925 0.040 2 43877848 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs147194762
rs147194762
2 0.925 0.040 2 43873860 missense variant A/C;G snv 8.0E-06; 3.8E-04 0.010 1.000 1 2008 2008
dbSNP: rs6544718
rs6544718
4 0.882 0.120 2 43877786 missense variant T/A;C;G snv 0.84; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs6756629
rs6756629
5 0.925 0.080 2 43837951 missense variant G/A;T snv 6.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs749661564
rs749661564
2 0.925 0.040 2 43852775 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs755130225
rs755130225
2 0.925 0.040 2 43877845 missense variant G/A snv 8.0E-06 0.010 1.000 1 2010 2010